Aberrant methylation of the TERT promoter in esophageal squamous cell carcinoma

Cancer Genet. 2015 Dec;208(12):602-9. doi: 10.1016/j.cancergen.2015.10.004. Epub 2015 Nov 2.

Abstract

A recent study indicated that upstream of the transcription start site (UTSS) hypermethylation of the telomerase reverse transcriptase (TERT) gene was associated with tumor progression and poor prognosis in pediatric brain tumors. The potential for methylation-mediated regulation of the UTSS region of the TERT gene in esophageal squamous cell carcinoma (ESCC) has not yet been investigated. Here, TERT methylation was investigated in tumor and paired adjacent non-cancerous tissues (ANT) from 185 ESCC patients, and the expression of TERT was investigated in 26 tumors paired with ANTs selected from the same cohort. The methylation level of TERT was analyzed in three different regions: region 1, region 2, and the UTSS region. Comparison and correlation of methylation level and clinical features were analyzed in the abovementioned regions. The results showed that the methylation level of TERT was significantly elevated in the tumor relative to the ANT in ESCC. TERT RNA expression was significantly reduced in primary tumors. Tumor stage was the major determinant of survival. The UTSS region may not be an accessible biomarker for ESCC.

Keywords: Telomerase reverse transcriptase; esophageal squamous cell carcinoma; methylation; upstream of the transcription start site (UTSS).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / metabolism
  • Cohort Studies
  • DNA Methylation / genetics*
  • Esophageal Neoplasms / genetics*
  • Esophageal Neoplasms / metabolism
  • Esophageal Squamous Cell Carcinoma
  • Esophagus / chemistry
  • Esophagus / metabolism
  • Female
  • Gene Expression Profiling
  • Humans
  • Male
  • Middle Aged
  • Promoter Regions, Genetic / genetics*
  • Telomerase / genetics*

Substances

  • TERT protein, human
  • Telomerase